TSES
MCID: GNT033
MIFTS: 26

Genetic Prion Diseases (TSES) malady

Categories: Genetic diseases

Aliases & Classifications for Genetic Prion Diseases

Aliases & Descriptions for Genetic Prion Diseases:

Name: Genetic Prion Diseases 23 24 29
Transmissible Spongiform Encephalopathies 23 24 51 3
Prion Diseases 69
Tses 23

Characteristics:

GeneReviews:

23
Penetrance The prnp pathogenic variants p.glu200lys and p.val210ile are commonly associated with a variable but generally age-dependent penetrance such that the older the individual, the greater likelihood of his/her manifesting the disease. thus, it is not uncommon to encounter a situation in which the parents and other relatives of an affected individual may be unaffected but have a prnp pathogenic variant [kovács et al 2005]. interestingly, the p.val180ile variant appears to occur almost exclusively in individuals presenting with cjd in later life [kovács et al 2005]...

Classifications:



Summaries for Genetic Prion Diseases

CDC : 3 Prion diseases or transmissible spongiform encephalopathies (TSEs) are a family of rare progressive neurodegenerative disorders that affect both humans and animals. They are distinguished by long incubation periods, characteristic spongiform changes associated with neuronal loss, and a failure to induce inflammatory response.

MalaCards based summary : Genetic Prion Diseases, also known as transmissible spongiform encephalopathies, is related to prion disease and fancf-related fanconi anemia. An important gene associated with Genetic Prion Diseases is PRNP (Prion Protein), and among its related pathways/superpathways is Neuroscience. Affiliated tissues include brain, and related phenotypes are endocrine/exocrine gland and muscle

NINDS : 51 Transmissible spongiform encephalopathies (TSEs), also known as prion diseases, are a group of rare degenerative brain disorders characterized by tiny holes that give the brain a "spongy" appearance. These holes can be seen when brain tissue is viewed under a microscope.

GeneReviews: NBK1229

Related Diseases for Genetic Prion Diseases

Graphical network of the top 20 diseases related to Genetic Prion Diseases:



Diseases related to Genetic Prion Diseases

Symptoms & Phenotypes for Genetic Prion Diseases

MGI Mouse Phenotypes related to Genetic Prion Diseases:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.33 HLA-DQB1 PRNP APOE
2 muscle MP:0005369 9.13 APOE HLA-DQB1 PRNP
3 reproductive system MP:0005389 8.8 APOE HLA-DQB1 PRNP

Drugs & Therapeutics for Genetic Prion Diseases

Interventional clinical trials:


id Name Status NCT ID Phase
1 Genetic Characterization of Movement Disorders and Dementias Recruiting NCT02014246

Search NIH Clinical Center for Genetic Prion Diseases

Genetic Tests for Genetic Prion Diseases

Genetic tests related to Genetic Prion Diseases:

id Genetic test Affiliating Genes
1 Genetic Prion Diseases 29 24 PRNP

Anatomical Context for Genetic Prion Diseases

MalaCards organs/tissues related to Genetic Prion Diseases:

39
Brain

Publications for Genetic Prion Diseases

Articles related to Genetic Prion Diseases:

(show all 23)
id Title Authors Year
1
Genetic Prion Disease Caused by PRNP Q160X Mutation Presenting with an Orbitofrontal Syndrome, Cyclic Diarrhea, and Peripheral Neuropathy. ( 27716661 )
2017
2
Genetic prion disease: Experience of a rapidly progressive dementia center in the United States and a review of the literature. ( 27943639 )
2017
3
Transgenic mice recapitulate the phenotypic heterogeneity of genetic prion diseases without developing prion infectivity: Role of intracellular PrP retention in neurotoxicity. ( 26864450 )
2016
4
Correction: PrPST, a Soluble, Protease Resistant and Truncated PrP Form Features in the Pathogenesis of a Genetic Prion Disease. ( 26193641 )
2015
5
The Features of Genetic Prion Diseases Based on Chinese Surveillance Program. ( 26488179 )
2015
6
Clinical findings and diagnosis in genetic prion diseases in Germany. ( 26076917 )
2015
7
Presence of voltage-gated potassium channel complex antibody in a case of genetic prion disease. ( 24903967 )
2014
8
Genetic prion disease: no role for the immune system in disease pathogenesis? ( 25239861 )
2014
9
Reduced cerebral blood flow in genetic prion disease with PRNP D178N-129M mutation: An arterial spin labeling MRI study. ( 25220284 )
2014
10
Ascertainment bias causes false signal of anticipation in genetic prion disease. ( 25279981 )
2014
11
Reversible symptoms and clearance of mutant prion protein in an inducible model of a genetic prion disease in Drosophila melanogaster. ( 24686303 )
2014
12
Epitope scanning indicates structural differences in brain-derived monomeric and aggregated mutant prion proteins related to genetic prion diseases. ( 23808898 )
2013
13
Relationships between clinicopathological features and cerebrospinal fluid biomarkers in Japanese patients with genetic prion diseases. ( 23555862 )
2013
14
PrP(ST), a soluble, protease resistant and truncated PrP form features in the pathogenesis of a genetic prion disease. ( 23922744 )
2013
15
Activation of the macroautophagic system in scrapie-infected experimental animals and human genetic prion diseases. ( 22874564 )
2012
16
Copper is toxic to PrP-ablated mice and exacerbates disease in a mouse model of E200K genetic prion disease. ( 22198568 )
2012
17
Genetic prion disease-associated myelodysplasia and SIADH in siblings. ( 22097952 )
2011
18
Genetic prion disease with codon 196 PRNP mutation: clinical and pathological findings. ( 21232818 )
2011
19
Comprehensive neuropathologic analysis of genetic prion disease associated with the E196K mutation in PRNP reveals phenotypic heterogeneity. ( 21293298 )
2011
20
ApoE distribution and family history in genetic prion diseases in Germany. ( 18157657 )
2008
21
Genetic prion disease: the EUROCJD experience. ( 16187142 )
2005
22
Transmissible and genetic prion diseases share a common pathway of neurodegeneration. ( 10617204 )
1999
23
Genetic Prion Diseases ( 20301407 )
1993

Variations for Genetic Prion Diseases

ClinVar genetic disease variations for Genetic Prion Diseases:

6 (show all 17)
id Gene Variation Type Significance SNP ID Assembly Location
1 PRNP NM_000311.4(PRNP) NT expansion Pathogenic rs193922906 GRCh37 Chromosome 20, 4680026: 4680049
2 PRNP NM_000311.4(PRNP): c.305C> T (p.Pro102Leu) single nucleotide variant Pathogenic rs74315401 GRCh37 Chromosome 20, 4680171: 4680171
3 PRNP NM_000311.4(PRNP): c.350C> T (p.Ala117Val) single nucleotide variant Pathogenic rs74315402 GRCh37 Chromosome 20, 4680216: 4680216
4 PRNP NM_000311.4(PRNP): c.598G> A (p.Glu200Lys) single nucleotide variant Pathogenic rs28933385 GRCh37 Chromosome 20, 4680464: 4680464
5 PRNP NM_000311.4(PRNP): c.532G> A (p.Asp178Asn) single nucleotide variant Pathogenic rs74315403 GRCh37 Chromosome 20, 4680398: 4680398
6 PRNP NM_000311.4(PRNP): c.593T> C (p.Phe198Ser) single nucleotide variant Pathogenic rs74315405 GRCh37 Chromosome 20, 4680459: 4680459
7 PRNP NM_000311.4(PRNP): c.650A> G (p.Gln217Arg) single nucleotide variant Pathogenic rs74315406 GRCh37 Chromosome 20, 4680516: 4680516
8 PRNP NM_000311.4(PRNP): c.628G> A (p.Val210Ile) single nucleotide variant Pathogenic rs74315407 GRCh37 Chromosome 20, 4680494: 4680494
9 PRNP NM_000311.4(PRNP): c.314C> T (p.Pro105Leu) single nucleotide variant Pathogenic rs11538758 GRCh37 Chromosome 20, 4680180: 4680180
10 PRNP NM_000311.4(PRNP): c.538G> A (p.Val180Ile) single nucleotide variant Pathogenic rs74315408 GRCh37 Chromosome 20, 4680404: 4680404
11 PRNP NM_000311.4(PRNP): c.547A> G (p.Thr183Ala) single nucleotide variant Pathogenic rs74315411 GRCh37 Chromosome 20, 4680413: 4680413
12 PRNP NM_000311.4(PRNP): c.623G> A (p.Arg208His) single nucleotide variant Pathogenic rs74315412 GRCh37 Chromosome 20, 4680489: 4680489
13 PRNP NM_000311.4(PRNP): c.560A> G (p.His187Arg) single nucleotide variant Pathogenic rs74315413 GRCh37 Chromosome 20, 4680426: 4680426
14 PRNP NM_000311.4(PRNP): c.313C> A (p.Pro105Thr) single nucleotide variant Pathogenic rs74315414 GRCh37 Chromosome 20, 4680179: 4680179
15 PRNP NM_000311.4(PRNP): c.313C> T (p.Pro105Ser) single nucleotide variant Pathogenic rs74315414 GRCh37 Chromosome 20, 4680179: 4680179
16 PRNP NM_000311.4(PRNP): c.435T> G (p.Tyr145Ter) single nucleotide variant Pathogenic rs80356710 GRCh37 Chromosome 20, 4680301: 4680301
17 PRNP NM_000311.4(PRNP): c.478C> T (p.Gln160Ter) single nucleotide variant Pathogenic rs80356711 GRCh37 Chromosome 20, 4680344: 4680344

Expression for Genetic Prion Diseases

Search GEO for disease gene expression data for Genetic Prion Diseases.

Pathways for Genetic Prion Diseases

Pathways related to Genetic Prion Diseases according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.13 APOE PRNP

GO Terms for Genetic Prion Diseases

Cellular components related to Genetic Prion Diseases according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 dendrite GO:0030425 8.96 APOE PRNP
2 clathrin-coated endocytic vesicle membrane GO:0030669 8.62 APOE HLA-DQB1

Biological processes related to Genetic Prion Diseases according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 response to oxidative stress GO:0006979 8.96 APOE PRNP
2 negative regulation of long-term synaptic potentiation GO:1900272 8.62 APOE PRNP

Molecular functions related to Genetic Prion Diseases according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 beta-amyloid binding GO:0001540 8.62 APOE PRNP

Sources for Genetic Prion Diseases

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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